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Cartilage-hair hypoplasia

Known as: CHH, Metaphyseal Chondrodysplasia, Recessive Type, Cartilage Hair Hypoplasia 
A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of… 
National Institutes of Health

Related topics

Related topics

14 relations
Anemia, MacrocyticAutosomal recessive inheritanceCongenital hypoplastic anemiaEsophageal Atresia

Broader (4)

HairHirschsprung DiseaseImmunologic Deficiency SyndromesOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Advanced Protocols in Oxidative Stress III
  • D. Armstrong
  • Methods in Molecular Biology
  • 2015
  • Corpus ID: 3707180
Part I: Reactive Oxygen and Nitrogen Techniques 1. Current Status of Measuring Oxidative Stress Beniamino Palmieri and Valeriana… 
Highly Cited
2012
Highly Cited
2012
epigenome Arabidopsis Pol IV-dependent siRNAs , and cytosine methylation in the Spatial and functional relationships among Pol V-associated loci , Material Supplemental
Material Supplemental http://genesdev.cshlp.org/content/suppl/2012/07/25/gad.197772.112.DC1.html P<P Published online August 1… 
Highly Cited
2007
Highly Cited
2007
The Cystic Fibrosis mutation “arms race”: when less is more
Theimplementationofpopulation-basedcysticfibrosiscar-rier screening in late 2001 represented the first application, atan all… 
2000
2000
Pregnancy-like (Pseudolactational) Hyperplasia: A Primary Diagnosis in Mammographically Detected Lesions of the Breast and Its Relationship to Cystic Hypersecretory Hyperplasia
Pregnancy-like (pseudolactational) hyperplasia (PLH) has long been recognized as an incidental finding in breast biopsies… 
Highly Cited
1996
Highly Cited
1996
Binding of a novel 50-kilodalton alboaggregin from Trimeresurus albolabris and related viper venom proteins to the platelet membrane glycoprotein Ib-IX-V complex. Effect on platelet aggregation and…
Binding of the multimeric adhesive glycoprotein, von Willebrand Factor (vWF), to the platelet membrane glycoprotein (GP) Ib-IX-V… 
Highly Cited
1991
Highly Cited
1991
Complications of leg lengthening. 46 procedures in 28 patients.
The results and complications of 46 leg-lengthening procedures in 28 consecutive patients were analyzed retrospectively. There… 
1991
1991
Patients with combined hypercholesterolemia-hypertriglyceridemia show an increased monocyte-endothelial cell adhesion in vitro: triglyceride level as a major determinant.
Highly Cited
1989
Highly Cited
1989
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.
The spondyloepiphyseal dysplasias (SEDs) and spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of skeletal… 
1982
1982
The mode of action of the crustacean neurosecretory hyperglycemic hormone (CHH). II. Involvement of glycogen synthase.
Highly Cited
1981
Highly Cited
1981
Localization of crustacean hyperglycemic hormone (CHH) in the X‐Organ sinus gland complex in the eyestalk of the crayfish, Astacus leptodactylus (Nordmann, 1842)
The eyestalk of Astacus leptodactylus is investigated immunocytochemically by light, fluorescence, and electron microscopy, using… 
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